ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as pathogenic by GeneDx

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Total variants: 8
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HGVS dbSNP
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1895C>G (p.Ser632Ter) rs200471699
NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) rs190057175
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.991C>T (p.Gln331Ter) rs1557673817

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